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NM_020226.3(PRDM8):c.781T>C (p.Phe261Leu)

Variation ID: Help
217865
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 1, 2012
Number of submission(s):
1
Condition(s):
Epilepsy, progressive myoclonic, 10[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_020226.3(PRDM8):c.781T>C (p.Phe261Leu)

Allele ID:
214521
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.21
Genomic location:
  • Chr4: 80202243 (on Assembly GRCh38)
  • Chr4: 81123397 (on Assembly GRCh37)
Protein change:
F261L
HGVS:
  • NG_046725.1:g.21974T>C
  • NM_020226.3:c.781T>C
  • NP_064611.3:p.Phe261Leu
  • NC_000004.12:g.80202243T>C (GRCh38)
  • NC_000004.11:g.81123397T>C (GRCh37)
  • Q9NQV8:p.Phe261Leu
Links:
NCBI 1000 Genomes Browser:
rs863225286
Molecular consequence:
NM_020226.3:c.781T>C: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Sep 1, 2012)
no assertion criteria providedliterature onlygermlineOMIMSCV000256829.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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